PTHR1

AcronymDefinition
PTHR1Parathyroid Hormone Receptor 1
References in periodicals archive ?
Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes.
An autosomal dominant inheritance pattern has been suggested, possibly linked to a mutation of the Parathyroid Hormone Receptor (PTHR1) [Frazier-Bowers et al., 2010].
The PTHR1 gene-signaling pathway plays a critical role in the regulation of endochondral ossification.
PTHR1 loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption.